The r (22) syndrome, Apropos of 4 new cases
Rethore, M.O.; Noël, B.; Couturier, J.; Prieur, M.; Lafourcade, J.; Lejeune, J.
Annales de Genetique 19(2): 111
1976
ISSN/ISBN: 0003-3995 PMID: 822770 Document Number: 103924
Four patients with a ring derived from chromosome n 22 - r(22)-are reported. The clinical syndrome is described, based on the description of these patients and ten others already reported in the litterature. The "doe's eye" anomaly appears to be the only morphological symptom of the disease. Mental retardation is pronounced and associated with disturbed equilibrium.